Literature DB >> 29908061

Collaborative science unites researchers and a novel spastic ataxia gene.

Brent L Fogel1.   

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Year:  2018        PMID: 29908061      PMCID: PMC6105536          DOI: 10.1002/ana.25262

Source DB:  PubMed          Journal:  Ann Neurol        ISSN: 0364-5134            Impact factor:   10.422


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  20 in total

Review 1.  Clinical variability of genetic isolates of Cohen syndrome.

Authors:  S Douzgou; M B Petersen
Journal:  Clin Genet       Date:  2011-04-07       Impact factor: 4.438

2.  The Matchmaker Exchange: a platform for rare disease gene discovery.

Authors:  Anthony A Philippakis; Danielle R Azzariti; Sergi Beltran; Anthony J Brookes; Catherine A Brownstein; Michael Brudno; Han G Brunner; Orion J Buske; Knox Carey; Cassie Doll; Sergiu Dumitriu; Stephanie O M Dyke; Johan T den Dunnen; Helen V Firth; Richard A Gibbs; Marta Girdea; Michael Gonzalez; Melissa A Haendel; Ada Hamosh; Ingrid A Holm; Lijia Huang; Matthew E Hurles; Ben Hutton; Joel B Krier; Andriy Misyura; Christopher J Mungall; Justin Paschall; Benedict Paten; Peter N Robinson; François Schiettecatte; Nara L Sobreira; Ganesh J Swaminathan; Peter E Taschner; Sharon F Terry; Nicole L Washington; Stephan Züchner; Kym M Boycott; Heidi L Rehm
Journal:  Hum Mutat       Date:  2015-10       Impact factor: 4.878

3.  Recessive mutations in VPS13D cause childhood onset movement disorders.

Authors:  Julie Gauthier; Inge A Meijer; Davor Lessel; Niccolò E Mencacci; Dimitri Krainc; Maja Hempel; Konstantinos Tsiakas; Holger Prokisch; Elsa Rossignol; Margaret H Helm; Lance H Rodan; Jason Karamchandani; Miryam Carecchio; Steven J Lubbe; Aida Telegrafi; Lindsay B Henderson; Kerry Lorenzo; Stephanie E Wallace; Ian A Glass; Fadi F Hamdan; Jacques L Michaud; Guy A Rouleau; Philippe M Campeau
Journal:  Ann Neurol       Date:  2018-04-10       Impact factor: 10.422

4.  Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Authors:  Brent L Fogel; Hane Lee; Joshua L Deignan; Samuel P Strom; Sibel Kantarci; Xizhe Wang; Fabiola Quintero-Rivera; Eric Vilain; Wayne W Grody; Susan Perlman; Daniel H Geschwind; Stanley F Nelson
Journal:  JAMA Neurol       Date:  2014-10       Impact factor: 18.302

5.  GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.

Authors:  Nara Sobreira; François Schiettecatte; David Valle; Ada Hamosh
Journal:  Hum Mutat       Date:  2015-08-13       Impact factor: 4.878

6.  Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.

Authors:  Eunju Seong; Ryan Insolera; Marija Dulovic; Erik-Jan Kamsteeg; Joanne Trinh; Norbert Brüggemann; Erin Sandford; Sheng Li; Ayse Bilge Ozel; Jun Z Li; Tamison Jewett; Anneke J A Kievit; Alexander Münchau; Vikram Shakkottai; Christine Klein; Catherine A Collins; Katja Lohmann; Bart P van de Warrenburg; Margit Burmeister
Journal:  Ann Neurol       Date:  2018-06-30       Impact factor: 10.422

7.  The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.

Authors:  William A Gahl; John J Mulvihill; Camilo Toro; Thomas C Markello; Anastasia L Wise; Rachel B Ramoni; David R Adams; Cynthia J Tifft
Journal:  Mol Genet Metab       Date:  2016-01-22       Impact factor: 4.797

8.  Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.

Authors:  Esther A R Nibbeling; Anna Duarri; Corien C Verschuuren-Bemelmans; Michiel R Fokkens; Juha M Karjalainen; Cleo J L M Smeets; Jelkje J de Boer-Bergsma; Gerben van der Vries; Dennis Dooijes; Giovana B Bampi; Cleo van Diemen; Ewout Brunt; Elly Ippel; Berry Kremer; Monique Vlak; Noam Adir; Cisca Wijmenga; Bart P C van de Warrenburg; Lude Franke; Richard J Sinke; Dineke S Verbeek
Journal:  Brain       Date:  2017-11-01       Impact factor: 13.501

9.  Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.

Authors:  Suzanne Lesage; Valérie Drouet; Elisa Majounie; Vincent Deramecourt; Maxime Jacoupy; Aude Nicolas; Florence Cormier-Dequaire; Sidi Mohamed Hassoun; Claire Pujol; Sorana Ciura; Zoi Erpapazoglou; Tatiana Usenko; Claude-Alain Maurage; Mourad Sahbatou; Stefan Liebau; Jinhui Ding; Basar Bilgic; Murat Emre; Nihan Erginel-Unaltuna; Gamze Guven; François Tison; Christine Tranchant; Marie Vidailhet; Jean-Christophe Corvol; Paul Krack; Anne-Louise Leutenegger; Michael A Nalls; Dena G Hernandez; Peter Heutink; J Raphael Gibbs; John Hardy; Nicholas W Wood; Thomas Gasser; Alexandra Durr; Jean-François Deleuze; Meriem Tazir; Alain Destée; Ebba Lohmann; Edor Kabashi; Andrew Singleton; Olga Corti; Alexis Brice
Journal:  Am J Hum Genet       Date:  2016-03-03       Impact factor: 11.025

10.  Exome sequencing in undiagnosed inherited and sporadic ataxias.

Authors:  Angela Pyle; Tania Smertenko; David Bargiela; Helen Griffin; Jennifer Duff; Marie Appleton; Konstantinos Douroudis; Gerald Pfeffer; Mauro Santibanez-Koref; Gail Eglon; Patrick Yu-Wai-Man; Venkateswaran Ramesh; Rita Horvath; Patrick F Chinnery
Journal:  Brain       Date:  2014-12-12       Impact factor: 13.501

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  3 in total

Review 1.  Clinical application of next-generation sequencing to the practice of neurology.

Authors:  Jessica Rexach; Hane Lee; Julian A Martinez-Agosto; Andrea H Németh; Brent L Fogel
Journal:  Lancet Neurol       Date:  2019-05       Impact factor: 44.182

2.  A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.

Authors:  Kathie J Ngo; Jessica E Rexach; Hane Lee; Lauren E Petty; Susan Perlman; Juliana M Valera; Joshua L Deignan; Yuanming Mao; Mamdouh Aker; Jennifer E Posey; Shalini N Jhangiani; Zeynep H Coban-Akdemir; Eric Boerwinkle; Donna Muzny; Alexandra B Nelson; Sharon Hassin-Baer; Gemma Poke; Katherine Neas; Michael D Geschwind; Wayne W Grody; Richard Gibbs; Daniel H Geschwind; James R Lupski; Jennifer E Below; Stanley F Nelson; Brent L Fogel
Journal:  Hum Mutat       Date:  2019-11-25       Impact factor: 4.700

3.  Autosomal recessive spinocerebellar ataxia type 4 with a VPS13D mutation: A case report.

Authors:  Xin Huang; Dong-Sheng Fan
Journal:  World J Clin Cases       Date:  2022-01-14       Impact factor: 1.337

  3 in total

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